Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations.

Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. Abstract Text:

Eiji Kawasaki,Takuya Awata,Hiroshi Ikegami,Tetsuro Kobayashi,Taro Maruyama,Koji Nakanishi,Akira Shimada,Miho Uga,Mho Uga,Susumu Kurihara,Yumiko Kawabata,Shoichiro Tanaka,Yasuhiko Kanazawa,Inkyu Lee,Katsumi Eguchi,

The protein tyrosine phosphatase, nonreceptor 22 gene (PTPN22) maps to human chromosome 1p13.3-p13.1 and encodes an important negative regulator of T-cell activation, lymphoid-specific phosphatase (Lyp). Recently, the minor allele of a single-nucleotide polymorphism (SNP) at nucleotide position 1858 (rs2476601, +1858C > T) was found to be associated with type 1 diabetes. However, the degree of the association is variable among ethnic populations, suggesting the presence of other disease-associated variants in PTPN22. To examine this possibility, we carried out a systemic search for PTPN22 using direct sequencing of PCR-amplified products in the Japanese population. Association and linkage studies were also conducted in 1,690 Japanese samples, 180 Korean samples, and 472 Caucasian samples from 95 nuclear families. We identified five novel SNPs, but not the +1858C > T SNP. Of these two frequent SNPs, -1123G > C, and +2740C > T were in strong linkage disequilibrium (LD), and the -1123G > C promoter SNP was associated with acute-onset but not slow-onset type 1 diabetes in the Japanese population (odds ratio [OR] = 1.42, 95% CI = 1.07-1.89, P = 0.015). This association was observed also in Korean patients with type 1 diabetes (Mantel-Haenszel chi2= 6.543, P = 0.0105, combined OR = 1.41 95% CI = 1.09-1.82). Furthermore, the affected family-based control (AFBAC) association test and the transmission disequilibrium analysis of multiplex families of European descent from the British Diabetes Association (BDA) Warren Repository indicated that the association was stronger in -1123G > C compared to +1858C > T. In conclusion, the type 1 diabetes association with PTPN22 is confirmed, but it cannot be attributed solely to the +1858C > T variant. The promoter -1123G > C SNP is a more likely causative variant in PTPN22.

Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. Publishing Authors By Initials

E Kawasaki,T Awata,H Ikegami,T Kobayashi,T Maruyama,K Nakanishi,A Shimada,M Uga,M Uga,S Kurihara,Y Kawabata,S Tanaka,Y Kanazawa,I Lee,K Eguchi,

For similar enzymes and coenzymes: enzymes: hydrolases: esterases: phosphoric monoester hydrolases: protein tyrosine phosphatases research abstracts see: enzymes and coenzymes: enzymes: hydrolases: esterases: phosphoric monoester hydrolases: protein tyrosine phosphatases research

PUBMED ID PMID:

MEDLINE DATE:

Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: American journal of medical genetics. Part A

VOLUME: 140

Page Numbers: 586-93

Journal Abbreviation: Am. J. Med. Genet. A

ISSN: 1552-4825

DAY: 15

MONTH: Mar

YEAR: 2006

Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 101235741

Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. Keywords Mesh Terms:

KEYWORDS: Protein Tyrosine Phosphatases

MESH TERMS: genetics

Chemical & Substance for Abstract: Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. Information

Substance Name: Protein Tyrosine Phosphatases

Registry Number: EC 3.1.3.48

Grant and Affiliation Information for Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations.

AFFILIATION: Department of Metabolism/Diabetes and Clinical Nutrition, Nagasaki University Hospital of Medicine and Dentistry, Nagasaki, Japan.

Country: United States

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Am J Med Genet A

REFSOURCE: Am J Med Genet A. 2007 Aug 1;143(15):182

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene PTPN22: association between a promoter polymorphism and type 1 diabetes in Asian populations Related Publications

• A multicenter study of leukocytapheresis in rheumatoid arthritis.
• Abrogation of constitutive STAT3 activity sensitizes human hepatoma cells to TRAIL-mediated apoptosis.
• Activation of endothelial nitric oxide synthase by the angiotensin II type 1 receptor.
• Adaptive control of the ethanol-forming system in heterolactic acid bacteria. Effect of growth conditions on alcohol dehydrogenase synthesis in Leuconostoc mesenteroides.
• Adiponectin versus angiotensin II: Key pathological role of their misbalance.
• Angiotensin II signal transduction through the AT1 receptor: novel insights into mechanisms and pathophysiology.
• Biosynthesis of archaeal membrane lipids: digeranylgeranylglycerophospholipid reductase of the thermoacidophilic archaeon Thermoplasma acidophilum.
• Bone edema determined by magnetic resonance imaging reflects severe disease status in patients with early-stage rheumatoid arthritis.
• Cerebellar ataxia in a patient receiving calcineurin inhibitors after living donor liver transplantation: a case report.
• Clearance of hepatitis C virus after living-donor liver transplantation in spite of residual viremia on end date of interferon therapy before transplantation.
• EGF activates PI3K-Akt and NF-kappaB via distinct pathways in salivary epithelial cells in Sjögren's syndrome.
• Easier understanding of pleural indentation on computed tomography.
• Effect of Cibacron Blue F3GA on phosphoglycerate kinase of Lactobacillus plantarum and phosphoglycerate mutase of Leuconostoc dextranicum.
• Epidermal growth factor inhibits Fas-mediated apoptosis in salivary epithelial cells of patients with primary Sjögren's syndrome.
• Exchange reactions catalyzed by methioninase from Pseudomonas putida.
• Exchange reactions catalyzed by methioninase from Pseudomonas putida. Isolation and characterization of the exchange products.
• Functional analysis of type 1 isopentenyl diphosphate isomerase from Halobacterium sp. NRC-1.
• Increasing hepatitis C virus-associated hepatocellular carcinoma mortality and aging: Long term trends in Japan.
• Irreversible imatinib-induced pneumonitis following long-term imatinib administration.
• La autoantigen translocates to cytoplasm after cleavage during granzyme B-mediated cytotoxicity.
• Mechanism of endothelial nitric oxide synthase phosphorylation and activation by thrombin.
• Progress in pathogenesis and therapy of vasculitis syndrome.
• Purification and characterization of methioninase from Pseudomonas putida.
• Recent advancement of understanding pathogenesis of type 1 diabetes and potential relevance to diabetic nephropathy.
• Small GTP-binding proteins and mitogen-activated protein kinases as promising therapeutic targets of vascular remodeling.
• Structure of 2-deoxy-scyllo-inosose synthase, a key enzyme in the biosynthesis of 2-deoxystreptamine-containing aminoglycoside antibiotics, in complex with a mechanism-based inhibitor and NAD+.
• Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): Association between a promoter polymorphism and type 1 diabetes in Asian populations. American Journal of Medical Genetics 140A:586-593 (2006).
• Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations.
• Use of an otolith-deficient mutant in studies of fish behavior in microgravity.
• [Analysis of a mutant Medaka fish ha--ground and parabolic experiments]